Haematology - Haemophillia

Question 1

Definition

Answer 1

X-linked recessive inherited bleeding disorder. Genetic mutations in clotting factors of intrinsic pathway of coagulation:
- Haemophilia A = Factor VIII
- Haemophilia B = Factor IX

Question 2

Epidemiology

Answer 2

FHx of haemophilia
Male

Question 3

Pathophysiology

Answer 3

Delayed clot formation due to reduced thrombin generation , leading to excessive bleeding.

Question 4

Signs and Symptoms

Answer 4

Signs:
- Haemarthrosis: knees, elbows, ankles
- Prolonged bleeding following heel prick: common presentation in neonates
- Cutaneous purpura: often first presentation of acquired haemophillia
Symptoms
- Spontaneous bleeding: into muscles and joints
- Excessive bleeding: with limited trauma, post-dental surgery
- Easy bruising
- Fatigue

Question 5

Diagnosis

Answer 5

FIRST LINE: Activated partial thromboplastin time (aPTT) prolonged
- Plasma factor VIII or IX levels decreased or absent

Question 6

Treatment:

Answer 6

Education
Avoidance of high-risk activity
Joint strengthening exercises
Clotting factors (VIII or IX) can be given by intravenous infusion, either regularly or in response to bleeding